Journal article
Clinical impact of whole-genome sequencing in patients with early-onset dementia
AJ Huq, B Thompson, MF Bennett, A Bournazos, S Bommireddipalli, A Gorelik, J Schultz, A Sexton, R Purvis, K West, M Cotter, G Valente, A Hughes, M Riaz, M Walsh, S Farrand, SM Loi, T Kilpatrick, A Brodtmann, D Darby Show all
Journal of Neurology Neurosurgery and Psychiatry | BMJ PUBLISHING GROUP | Published : 2022
Abstract
Background In the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challenging due to multiple types of genetic tests required to arrive at a diagnosis. Whole-genome sequencing (WGS) has the potential to serve as a single diagnostic platform, due to its superior ability to detect common, rare and structural genetic variation. Methods WGS analysis was performed in 50 patients with EOD. Point mutations, small insertions/deletions, as well as structural variants (SVs) and short tandem repeats (STRs), were analysed. An Alzheimer's disease (AD)-related polygenic risk score (PRS) was calculated in patients with AD. Results Clinical genetic diagno..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
AJH was supported by the Commonwealth Research Training Program Scholarship, Australia (University of Melbourne reference number 96756) and the Yulgilbar Alzheimer Research Program. MFB was supported by a Taking Flight award from CURE Epilepsy. MB was supported by a National Health and Medical Research Council (NHMRC) Senior Research Fellowship (1102971). This work was made possible through the Yulgilbar Alzheimer Research Program, the Victorian Government's Operational Infrastructure Support Program and Australian Government NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS).